Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
Stover, E H, Borthwick, K J, Bavalia, C, Eady, N, Fritz, D M, Rungroj, N, Giersch, A B S, Morton, C C, Axon, P R, Akil, I, Al-Sabban, E A, Baguley, D M, Bianca, S, Bakkaloglu, A, Bircan, Z, Chauveau, D, Clermont, M-J, Guala, A, Hulton, S A, Kroes, H, Li Volti, G, Mir, S, Mocan, H, Nayir, A, Ozen, S, Rodriguez Soriano, J, Sanjad, S A, Tasic, V, Taylor, C M, Topaloglu, R, Smith, A N, Karet, F E
Published in Journal of medical genetics (01.11.2002)
Published in Journal of medical genetics (01.11.2002)
Get full text
Journal Article
Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
SIMON, D. B, KARET, F. E, RODRIGUEZ-SORIANO, J, HAMDAN, J. H, DIPIETRO, A, TRACHTMAN, H, SANJAD, S. A, LIFTON, R. P
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
Get full text
Journal Article
Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness
Lifton, Richard P, Karet, Fiona E, Finberg, Karin E, Nelson, Raoul D, Nayir, Ahmet, Mocan, Hilal, Sanjad, Sami A, Rodriguez-Soriano, Juan, Santos, Fernando, Cremers, Cor W.R.J, Pietro, Antonio Di, Hoffbrand, Barry I, Winiarski, Jacek, Bakkaloglu, Aysin, Ozen, Seza, Dusunsel, Ruhan, Goodyer, Paul, Hulton, Sally A, Wu, Doris K, Skvorak, Anne B, Morton, Cynthia C, Cunningham, Michael J, Jha, Vivekanand
Published in Nature genetics (01.01.1999)
Published in Nature genetics (01.01.1999)
Get full text
Journal Article
Mutations in the chloride channel gene, CLCNKB , cause Bartter's syndrome type III
Stone, Rosário, Bakkaloglu, Aysin, John, Eunice, Nayir, Ahmet, Trachtman, Howard, Alpay, Harika, Mansfield, Traci A, Simon, David B, Mendonca, Erica, Schurman, Scott, Sanjad, Sami A, Griswold, William, Nelson-Williams, Carol, Morales, Jose M, Brem, Andrew, Taylor, C. Mark, Lifton, Richard P, Richard, George A, Bindra, Ranjit S, Pilz, Daniela, Rodriguez-Soriano, Juan
Published in Nature genetics (01.10.1997)
Published in Nature genetics (01.10.1997)
Get full text
Journal Article
Management of hyperlipidemia in children with refractory nephrotic syndrome: The effect of statin therapy
Sanjad, Sami A., Al-Abbad, Abbas, Al-Shorafa, Saleh
Published in The Journal of pediatrics (01.03.1997)
Published in The Journal of pediatrics (01.03.1997)
Get full text
Journal Article
Localization of a Gene for Autosomal Recessive Distal Renal Tubular Acidosis with Normal Hearing ( rdRTA2 ) to 7q33-34
Karet, Fiona E., Finberg, Karin E., Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A., Sanjad, Sami A., Al-Sabban, Essam A., Medina, Juan F., Lifton, Richard P.
Published in American journal of human genetics (01.12.1999)
Published in American journal of human genetics (01.12.1999)
Get full text
Journal Article
A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features
Sanjad, S A, Sakati, N A, Abu-Osba, Y K, Kaddoura, R, Milner, R D
Published in Archives of disease in childhood (01.02.1991)
Published in Archives of disease in childhood (01.02.1991)
Get full text
Journal Article
Bartter syndrome in a neonate : early treatment with indomethacin
MOURANI, C. C, SANJAD, S. A, AKATCHERIAN, C. Y
Published in Pediatric nephrology (Berlin, West) (01.02.2000)
Published in Pediatric nephrology (Berlin, West) (01.02.2000)
Get full text
Journal Article
Intensive care and immediate follow-up of children after renal transplantation
Get full text
Journal Article
Conference Proceeding
Renal tubular dysfunction following kidney transplantation: a prospective study in 31 children
Sanjad, S.A, Ibrahim, A, Al Shorafa, S, Al Abbad, A, Khauli, R.B, Shaibani, K.A.P, Al Sabban, E
Published in Transplantation proceedings (01.08.2001)
Published in Transplantation proceedings (01.08.2001)
Get full text
Journal Article
Conference Proceeding
Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2
Simon, D B, Karet, F E, Hamdan, J M, DiPietro, A, Sanjad, S A, Lifton, R P
Published in Nature genetics (01.06.1996)
Published in Nature genetics (01.06.1996)
Get full text
Journal Article
Mutations in ATP6N1B , encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing
Karet, Fiona E, Smith, Annabel N, Skaug, Jennifer, Choate, Keith A, Nayir, Ahmet, Bakkaloglu, Aysin, Ozen, Seza, Hulton, Sally A, Sanjad, Sami A, Al-Sabban, Essam A, Lifton, Richard P, Scherer, Stephen W
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
Get full text
Journal Article
Severe hypertension, hyperkalemia, and renal tubular acidosis responding to dietary sodium restriction
Sanjad, S A, Mansour, F M, Hernandez, R H, Hill, L L
Published in Pediatrics (Evanston) (01.03.1982)
Published in Pediatrics (Evanston) (01.03.1982)
Get more information
Journal Article
Childhood acute leukemia: A search for occult extramedullary disease prior to discontinuation of chemotherapy
Mahoney, D. H., Gonzales, E. T., Ferry, G. D., Sanjad, S. A., Von Noorden, G. K., Fernbach, D. J.
Published in Cancer (01.11.1981)
Published in Cancer (01.11.1981)
Get full text
Journal Article
1201 Whole Exon Deletion in the Claudin 16 Gene, a Novel Mutation in Familial Hypomagnesemia/Hypercalciuria/Nephrocalcinosis (FHHNC) and Sensorineural Deafness (SND)
Sanjad, SA, Lu, Y, Khoury, C, Habbal, Z, Lifton, R
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
Get full text
Journal Article
Nephropathy, an underestimated complication of methicillin therapy
Sanjad, Sami A., Haddad, Gabriel G., Nassar, Victor H.
Published in The Journal of pediatrics (01.06.1974)
Published in The Journal of pediatrics (01.06.1974)
Get full text
Journal Article